Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis

Kenny-Caffey syndrome (KCS) is a rare genetic disorder characterized by extreme short stature, cortical thickening and medullary stenosis of tubular bones, facial dysmorphism, abnormal T cell function, and hypoparathyroidism. Biallelic loss-of-function variants in TBCE cause autosomal recessive type...

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Bibliographic Details

Published in:	JCI Insight
Main Authors:	Dong Li, Niels Mailand, Emma Ewing, Saskia Hoffmann, Richard C. Caswell, Lewis Pang, Jacqueline Eason, Ying Dou, Kathleen E. Sullivan, Hakon Hakonarson, Michael A. Levine
Format:	Article
Language:	English
Published:	American Society for Clinical investigation 2025-03-01
Subjects:	Endocrinology Genetics
Online Access:	https://doi.org/10.1172/jci.insight.186862